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41 Possible Causes for Hyporeflexia, Percussion Myotonia

  • Schwartz-Jampel Syndrome

    Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest[] He had proximal muscle hypertrophy, distal muscle wasting and generalized hyporeflexia. Bone X-ray revealed pseudofracture of humerus.[] He had diffuse muscular hypertrophy and stiffness with eyelid myotonia, tongue myotonia, percussion myotonia at thenar eminence [Figure 2] and forearm muscles.[]

  • Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[] […] typically elicited by percussion of the thenar eminence with a tendon hammer—‘percussion myotonia’.[] Handgrip myotonia and strength may improve with repeated contractions—‘warm up phenomenon’. 28 The warm up phenomenon can also improve speech production. 29 Myotonia can be[]

  • Paramyotonia Congenita

    They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms.[] […] disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; fasciculation; hyporeflexia[] Also of diagnostic importance are the myotonic reactions inducible at room temperature, such as percussion myotonia, active myotonia and paradoxical myotonia.[]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1H

    myotonia Skeletal muscle fibrosis Abnormality of the musculature Anemia Splenomegaly Cardiomyopathy Behavioral abnormality Depressivity Hepatosplenomegaly X-linked inheritance[] […] weakness Trophic changes related to pain Autophagic vacuoles Centrally nucleated skeletal muscle fibers Pica Peripheral neuropathy Distal muscle weakness Flexion contracture Hyporeflexia[] […] retinopathy Mask-like facies Neck muscle weakness Progressive ptosis Pes cavus Dyspnea Ranula Spinal canal stenosis Loss of ability to walk Abnormality of muscle fibers Percussion[]

  • Hypokalemic Periodic Paralysis

    myotonia MC, PMC, PAM Physical exam with some of: fifth digit clinodactyly, ocular hypertelorism, low-set ears, webbed fingers/toes, broad nasal root, small mandible, short[] […] normal limits; he had zero out of five strength in his hips, two out of five strength in his knees and shoulders, and normal strength distally with bicipital and patellar hyporeflexia[] With more severe hypokalemia, flaccid paralysis and hyporeflexia may result.[]

  • Generalized Myotonia of Thomsen

    On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal.[] Hyporeflexia is also seen in a large percentage of patients. Weakness, when present, tends to be in the distal lower extremities.[] Secondary outcomes: (1) clinical relaxation time; (2) electromyographic relaxation time; (3) stair test; (4) presence of percussion myotonia; and (5) adverse events.[]

  • Charcot-Marie-Tooth Disease Type 2S

    The unusual clinical features of CMTD were associated with fasciculation, cramps, myokymia, impaired muscular relaxation and percussion myotonia with their electromyographic[] Common clinical manifestations of CMTX1 disease, as in other forms of Charcot-Marie-Tooth (CMT) disease, are distal muscle wasting and weakness, hyporeflexia, distal sensory[] ) disease is a clinically and genetically heterogeneous hereditary motor and sensory neuropathy characterized by distal muscle wasting and weakness, sensory disturbance, hyporeflexia[]

  • Myotonic Dystrophy

    Percussion myotonia or myotonia of grasp or both is usually present if looked for.[] Other typical findings of the disease were frontal alopecia, bilateral palpebral ptosis, testicular atrophy, muscular weakness with distal predominance, generalized hyporeflexia[] The less common clinical syndromes, which include the two possible cases of myotonic dystrophy, are: (2) almost pure myotonia, symptomatic from early infancy (one case) or[]

  • Congenital Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[] Examination revealed generalised hypotonia and hyporeflexia.[]

  • Bilateral Leg Weakness

    Inflammation of muscles produces irritability of the muscles which is sometimes visible with gentle percussion- Marked contractions of muscles after percussion, myotonia,[] Signs LMD dysfunction in the limbs manifests as weakness, atrophy, fasciculations and hyporeflexia. The thighs are often a site of marked fasciculation.[]

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